Varaico: Literature-Extracted Genetic Variants

STUB1

396 papers

RefSeq Summary

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protei...

Pfam Domains

ANAPC3aa 39–120UCSCAnaphase-promoting complex, cyclosome, subunit 3

CHIP_TPR_Naa 142–225UCSCCHIP N-terminal tetratricopeptide repeat domain

U-boxaa 227–299UCSCU-box domain

Gene Aliases

HGNC Name

STIP1 homology and U-box containing protein 1

HGNC Alias Symbols

UBOX1; CHIP; SDCCAG7; HSPABP2; NY-CO-7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_005861.4

p.L123V

c.367C>G

Surrounding Variants

1 paper

NM_005861.4

p.A124V

c.371C>T

1 paper

NM_005861.4

p.A124A

c.372C>A

1 paper

NM_005861.4

p.K125R

c.374A>G

1 paper

NM_005861.4

p.A120V

c.359C>T

1 paper

NM_005861.4

p.K125K

c.375G>A

1 paper

NM_005861.4

p.K125N

c.375G>T

1 paper

NM_005861.4

p.A120Splc

c.359-1G>C

1 paper

NM_005861.4

p.E126G

c.377A>G

1 paper

NM_005861.4

p.R128delFs

c.382_383delCG

1 paper

NM_005861.4

p.R128delFs

c.382delC

10 papers

NM_005861.4

p.N130I

c.389A>T

1 paper

NM_005861.4

p.D133Y

c.397G>T